Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
逐步使用基因组学和转录组学技术可提高孟德尔遗传病的诊断率
期刊:Frontiers in Cell and Developmental Biology
影响因子:4.6
doi:10.3389/fcell.2023.1021920
Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sébas